1. Gene
  2. CENPT - centromere protein T Gene

CENPT - centromere protein T Gene

Homo sapiens

Also known as SSMGA; CENP-T; C16orf56

Gene ID: 80152 | Gene type: protein coding

About CENPT

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:67,828,157-67,847,693 (from NCBI)

This gene has 35 transcripts (splice variants), 176 orthologues and is associated with 1 phenotype. Ubiquitous expression in skin (RPKM 26.3), testis (RPKM 20.1) and 25 other tissues.

Summary

The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]

CENPT Products(1)

mRNA Protein Name
NM_025082.4 NP_079358.3 centromere protein T

CENPT Protein Structure

CENP-T_C

CENP-T_C: Centromere kinetochore component CENP-T histone fold (25 - 514)

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  • 561 a.a.
Protein Preferred Names Protein Names

centromere protein T

interphase centromere complex protein 22

Related Diseases

Diseases Alias
Short Stature And Microcephaly With Genital Anomalies

SSMGA

Methylmalonic Aciduria And Homocystinuria, Cblx Type

Mental Retardation, X-Linked 3

Methylmalonic Acidemia With Homocystinuria, Type Cblx

MAHCX

Intellectual Developmental Disorder, X-Linked 3

Xlid3

Mrx3

Methylmalonic Acidemia And Homocysteinemia Cblx Type

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx

Methylmalonic Aciduria With Homocystinuria, Type Cblx

Methylmalonic Acidemia And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia , Cblx Type

Mental Retardation, X-Linked, Type 3

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CENPT MGD MGI:2443939
Rattus norvegicus CENPT RGD RGD:1309383
Macaca mulatta CENPT VGNC VGNC:71103
Felis catus CENPT VGNC VGNC:60761
Bos taurus CENPT VGNC VGNC:27185